Canonical Allele Identifier: CA342839

Gene: CFTR

Linked Data

• ClinVar Variation Id: 35868
• ClinVar RCV Id: RCV000029523 ; RCV000723840 ; RCV001004501 ; RCV001831611 ; RCV003473143
• dbSNP Id: rs78984783
• ExAC: 7:117267633 AC / A
• gnomAD v2: 7-117267633-AC-A
• gnomAD v3: 7-117627579-AC-A
• gnomAD v4: 7-117627579-AC-A
• MyVariant Identifiers: chr7:g.117267635del (hg19) ; chr7:g.117267634del (hg19) ; chr7:g.117627581del (hg38) ; chr7:g.117627580del (hg38)
• PubMed: PMID:3110945 ; PMID:11280952 ; PMID:23974870

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627581del , CM000669.2:g.117627581del	GRCh38
NC_000007.13:g.117267635del , CM000669.1:g.117267635del	GRCh37
NC_000007.12:g.117054871del	NCBI36
NG_016465.4:g.166798del , LRG_663:g.166798del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3517+11del	ENSP00000497673.2:n.3517+11del
ENST00000647978.2:c.*3242del	ENSP00000497658.1:n.*3242del
ENST00000649781.2:c.3345del	ENSP00000497203.1:p.Lys1116SerfsTer15
ENST00000685018.2:c.3528del	ENSP00000510194.2:p.Lys1177SerfsTer15
ENST00000687278.2:c.*181del	ENSP00000509593.2:n.*181del
ENST00000699585.1:c.3517+11del	ENSP00000514456.1:n.3517+11del
ENST00000699598.1:c.3528del	ENSP00000514467.1:p.Lys1177SerfsTer15
ENST00000699599.1:c.3528del	ENSP00000514468.1:p.Lys1177SerfsTer15
ENST00000699600.1:c.*189del	ENSP00000514469.1:n.*189del
ENST00000699601.1:c.*1903del	ENSP00000514470.1:n.*1903del
ENST00000699602.1:c.3522del	ENSP00000514471.1:p.Lys1175SerfsTer15
ENST00000699604.1:c.*3352del	ENSP00000514472.1:n.*3352del
ENST00000699605.1:c.3102del	ENSP00000514473.1:p.Lys1035SerfsTer15
ENST00000685018.1:c.276del	ENSP00000510194.1:p.Lys93SerfsTer15
ENST00000687278.1:c.1315del	ENSP00000509593.1:n.1315del
ENST00000689011.1:c.110del
ENST00000003084.11:c.3528del MANE Select	ENSP00000003084.6:p.Lys1177SerfsTer15
ENST00000647720.1:c.1167+11del
ENST00000648260.1:c.2310del	ENSP00000497957.1:p.Lys771SerfsTer15
ENST00000649406.1:c.3345del	ENSP00000497965.1:p.Lys1116SerfsTer15
ENST00000649781.1:c.3345del	ENSP00000497203.1:p.Lys1116SerfsTer15
ENST00000003084.10:c.3528del	ENSP00000003084.6:p.Lys1177SerfsTer15
ENST00000426809.5:c.3438del	ENSP00000389119.1:p.Lys1147SerfsTer15
ENST00000468795.1:c.353del
NM_000492.3:c.3528del , LRG_663t1:c.3528del	NP_000483.3:p.Lys1177SerfsTer15
XM_011515751.1:c.3618del	XP_011514053.1:p.Lys1207SerfsTer15
XM_011515752.1:c.3618del	XP_011514054.1:p.Lys1207SerfsTer15
XM_011515753.1:c.3285del	XP_011514055.1:p.Lys1096SerfsTer15
XM_011515754.1:c.3285del	XP_011514056.1:p.Lys1096SerfsTer15
NM_000492.4:c.3528del MANE Select	NP_000483.3:p.Lys1177SerfsTer15